title: Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case.
abstract: We have studied an infant with cloverleaf skull, proptosis, radioulnar synostosis and broad thumbs and great toes diagnosed as Pfeiffer syndrome type 2. However, there were many overlapping findings with Antley-Bixler syndrome. The patient was found to have a G to T mutation in codon 290 exon 7 of the FGFR2 gene leading to a substitution of a cys for the normal trp at this locus. This is the third mutation characterized at this codon; therefore, this locus appears to be a mutational hotspot in the gene. However, the other known mutations lead to a milder, Crouzon-like phenotype. The introduction of an additional cys into a region characterized by immunoglobulin-type loops maintained by cys S-S crosslinking may provide an explanation for the severity of the clinical findings of this child.
authors.affiliation: H.A. Chapman Research Institute of Medical Genetics, Tulsa, Oklahoma 74135, USA.
authors.forename: F
authors.initials: F
authors.lastname: Schaefer
authors.forename: C
authors.initials: C
authors.lastname: Anderson
authors.forename: B
authors.initials: B
authors.lastname: Can
authors.forename: B
authors.initials: B
authors.lastname: Say
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics*; D000595:Amino Acid Sequence; D003062:Codon; D003394:Craniofacial Dysostosis / Q000235:genetics*; D003545:Cysteine / Q000235:genetics; D005091:Exons; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D009154:Mutation; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D014364:Tryptophan / Q000235:genetics
chemical_list: D003062:Codon; D017468:Receptors, Fibroblast Growth Factor; D014364:Tryptophan; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2; D003545:Cysteine